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Osteogenesis Imperfecta Patients: Access Free Support Resources Today!
Probably Genetic is excited to announce that we have launched a program dedicated to supporting the Osteogenesis Imperfecta community.
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All About SYNGAP1-related Disorders
SYNGAP1-related disorders describe a group of disorders caused by pathogenic mutations in the SYNGAP1 gene.
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How Probably Genetic Uses Patient Information While Remaining Confidential
Probably Genetic understands that our patients are concerned about their privacy. That is why keeping patient information confidential is our priority
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2021 Year in Review
Probably Genetic is filled with gratitude as we reflect on what we have accomplished over the last twelve months—the relationships built, the knowledge gained, and even the mistakes made.
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Navigating the New Features of Probably Genetic's Symptom Checker
Probably Genetic develops technology to find undiagnosed patients faster and provide them with genetic testing. The process begins with Probably Genetic’s online symptom checker.
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All About WHIM Syndrome
WHIM syndrome is an acronym that describes the distinctive characteristics of the condition: Warts, Hypogammaglobulinemia, Infection, and Myelokathexis.
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The Beginner's Guide to the Rare Disease Industry
We are often asked, “What should I read or watch if I want to learn more about genomics, genetic diseases, and biotech?” Well, here’s our answer!
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What It Feels Like to Not Have Access to Rare Disease Experts
"The fact that my life with a rare disease is too difficult a problem for doctors to solve within the allotted time constraints, and that my complexities detract from passion for medicine feels like the worst form of rejection."
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All About Kabuki Syndrome
Lukas Lange, the CEO of Probably Genetic, had the opportunity to speak at the 2021 Virtual Research Conference hosted by the Kabuki Syndrome Foundation.
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What It’s Like to Be an Undiagnosed Rare Disease Patient
Rare disease patients seek solace in social media connections.
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Multigenerational Mitochondrial Disease: Gina's Story
A patient tells her story to raise awareness during Global Mitochondrial Disease Awareness week (September 19 - September 25, 2021).
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How to Choose a Genetic Test
Which types of genetic tests are out there? Which types of genetic variation can be detected? Which factors are important for choosing the right provider?
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Is Fibromyalgia coded into your DNA?
There is substantial evidence that some fibromyalgia cases might have a genetic origin but the exact causes still remain unknown.
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Why experts recommend genetic testing in groups of 3
Comparing the DNA of the parents with their child makes it significantly easier to determine which variant is disease causing.
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5 Rare Disease Stats Everyone Should Know
Since most rare diseases are genetic, it is important to expand access to affordable genetic testing. Genetic testing helps provide answers to those struggling with unexplained symptoms.
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Top Concerns Parents Have Before Getting a Genetic Test for their Child with Autism
“Since as early as 2013, the American College of Medical Genetics has recommended the use of genetic testing as a first-line tool for understanding the cause of Autism.”
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How Social Media Helps the Rare Disease Community
The rare disease community has a strong online presence, which allows patients and their families from all over the world to meet other people affected by rare diseases.
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